Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula

Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula

Fazio-Londe syndrome is a rare neurological disorder presenting with sensorineural deafness, bulbar palsy and respiratory compromise that is caused by mutation in the SLC52A3 gene, which encodes the intestinal (hRFT2) riboflavin transporter. We report a patient with early onset of Fazio-Londe syndro...

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Veröffentlicht in:Human genome variation 2017-05, Vol.4 (1), p.17018-17018, Article 17018
Hauptverfasser: Hossain, Mohammad Arif, Obaid, Abdulrahman, Rifai, Mohammad, Alem, Hala, Hazwani, Tarek, Al Shehri, Ali, Alfadhel, Majid, Eto, Yoshikatsu, Eyaid, Wafaa
Format: Artikel
Sprache:eng
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631/208/200
692/699/317
Biomedical and Life Sciences
Biomedicine
Data Report
Gene Expression
Gene Function
Gene Therapy
Human Genetics
Molecular Medicine
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Beschreibung
Zusammenfassung:Fazio-Londe syndrome is a rare neurological disorder presenting with sensorineural deafness, bulbar palsy and respiratory compromise that is caused by mutation in the SLC52A3 gene, which encodes the intestinal (hRFT2) riboflavin transporter. We report a patient with early onset of Fazio-Londe syndrome as the first case report in Saudi Arabia with rapid regression to death at 24 months of age.
ISSN:2054-345X
2054-345X
DOI:10.1038/hgv.2017.18